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Öğe ACAN Gene VNTR Polymorphism and Intervertebral Disc Degeneration in a Turkish Population(2020) Öz, Tuba; Kaya, İsmail; Nursal, Ayşe Feyda; Aydın, Hasan Emre; Demir, Osman; Yiğit, SerbülentAim: Intervertebral disc degeneration (IVDD) is caused by several genetic and environmental factors. Aggrecan is the major component of intervertebral disk matrix proteoglycan with multiple functional domains. The aim of this study was to investigate the possible association between ACAN (coding aggrecan) gene variable number tandem repeat (VNTR) polymorphism and susceptibility to IVDD. Methods: Two hundred and sixty subjects participated in this study. The disease group comprised 150 patients diagnosed with symptomatic IVDD. The control group consisted of 110 healthy subjects. The ACAN gene VNTR region was analyzed using the polymerase chain reaction (PCR) method. Results: The most common allele in the patient and the control group was 27 repeat allele (49% and 34.55%, respectively). Allele 26 was more frequent in males compared to females (p=0.030). Allele 21 and 23 were more common in ones living in rural areas (p=0.030) while allele 27 was the most frequent in ones living in urban areas (p<0.001). Allele 26, allele 29 and allele 30 were less frequent in the patient group than in the control group (p=0.013, p=0.001 and p=0.001, respectively) while allele 27 was more common in the patient group compared to the control group (p=0.001). Conclusion: Our results showed that ACAN VNTR allele 27 had a positive relationship with IVDD susceptibility in a Turkish population.Öğe Angiotensin converting enzyme gene insertion/deletion variant and familial Mediterranean fever-related amyloidosis(Iranian Society of Nephrology, 2018) Nursal, Ayşe Feyda; Türkmen, Ercan; Uzun Kaya, Süheyla; Tekcan, Akın; Sezer, Özlem; Çelik, Sümeyya Deniz; Yiğit, SerbülentIntroduction. The most important complication of familial Mediterranean fever (FMF) is secondary amyloidosis, which can lead to kidney failure. Genetic variability in the genes of various components of the renin-angiotensin system may play a role in the pathogenesis of the kidney disorders. The aim of the present study was to investigate the association between angiotensin converting enzyme (ACE) gene I/D variant and risk of developing FMF-related amyloidosis in Turkish patients. Materials and Methods. A total of 240 individuals consisting of 40 patients with FMF-related amyloidosis, 100 FMF patients without amyloidosis, and 100 healthy controls were recruited. For all of the participants, ACE I/D variant was detected by the polymerase chain reaction using specific primers. Results. A significant difference was found between the patients with FMF-related amyloidosis and the control group as for genotype distribution of ACE I/D variant (P < .05). The ACE D/D and I/D genotypes were more frequent in the patients with FMF-related amyloidosis while the I/I genotype was less frequent in the same patients. The FMF patients (with and without amyloidosis) had significantly higher percentages of the D/D and I/D genotypes than the healthy controls (P < .05). Comparison between the subgroups of FMF patients, divided into those with and without amyloidosis, yielded a significant correlation according to ID+II versus DD genotypes (P < .03, odds ratio, 3.24; 95% confidence interval, 1.05 to 12.01). Conclusions. Based on these observations, the ACE I/D variant D/D genotypes implicate a possible risk in the FMF-related amyloidosis among Turkish population. © 2018, Iranian Society of Nephrology. All rights reserved.Öğe C Deletion in Exon 4 Codon 63 of p53 Gene in Turkish Patients with Oral Squamous Cell Carcinoma(2020) Tekcan, Akın; Gümüşay, Özge; Nursal, Ayşe Feyda; Yiğit, Serbülent; Yıldız, Serkan; Tümer, Mehmet KemalOBJECTIVE Oral squamous cell carcinoma (OSCC) is the most frequently seen oral malignancy and accounts for up to 80-90% of all malignant neoplasms that occurin the oral cavity. The p53 tumor suppressor gene plays a crucial role in the regulation of the cell cycle. Mutations of the p53 gene havean important role in OSCC carcinogenesis. In this study, we aimed to evaluate the C-deletion mutation in exon 4 codon 63 of p53 gene in Turkish patients with OSCC. METHODS A total of 60 subjects were enrolled in this study, 30 patients with a pathologic diagnosis of OSCC and 30 cases of age and sex-matched healthy controls. Genotyping was performed for all individuals using polymerase chain reaction (PCR) analysis. RESULTS CONCLUSION T he findings showed that the distribution of p53 exon 4 codon 63 C-deletion was significantly different between patient group and control group (p=0.000). It was detected that all patients had C-deletion mutation in exon 4 codon 63 of p53. Our results suggest that C-deletion in exon 4 codon 63 deletion of the p53 gene may play a role in the pathogenesis of human OSCC in a Turkish cohort.Öğe Effect of a functional variant of tumor necrosis factor-? gene in temporomandibular disorders: a pilot study(John Wiley and Sons Inc., 2019) Yerliyurt, Kaan; Nursal, Ayşe Feyda; Tekcan, Akın; Karakuş, Nevin; Tümer, Mehmet Kemal; Yiğit, SerbülentBackground: Temporomandibular disorders (TMD) are a group of conditions that cause chronic orofacial pain. The tumor necrosis factor ? (TNF-?) is a proinflammatory cytokine that is involved in the various aspects of the inflammatory process including organization and maintenance, and in the arrangement of cells at the inflammation site. The purpose of this study was to evaluate the correlation between TNF-? +252A/G (rs909253) variant and susceptibility to TMD in a Turkish cohort. Methods: The study included 104 patients (26 males, 78 females) with TMD and 126 healthy controls (44 males, 82 females). The TNF-? +252A/G variant analysis was based on Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Results: There was no deviation from HWA for TNF-? +252A/G variant in patient and control groups. There was significant difference in genotype and allele frequencies between patient group and control group in terms of TNF-? +252A/G variant, respectively (P = 0.010, 0.015). A significant increase in the TNF-? +252 AG genotype and G allele frequencies were observed in TMD patients compared to healthy controls. The individuals with GG genotype and G allele had an increased risk of developing TMD. A statistically significant association was observed when the patients were compared with the controls according to AA genotype vs AG+GG genotypes (P = 0.002, OR: 2.23, 95% CI:1.31-3.82). TNF-? +252A/G genotype distribution was associated with chewing problems (P = 0.046). Conclusions: In conclusion, our results provided evidence that TNF-? +252A/G variant may contribute to TMD development in a Turkish cohort. Further studies are needed to confirm this observation. © 2018 Wiley Periodicals, Inc.Öğe Genetic Variations of miRNAs and the Risk of Oral Squamous Cell Carcinoma: A Case-control Study(2020) Yılmaz, Kübra; Gümüşay, Özge; Nursal, Ayşe Feyda; Karakuş, Nevin; Yiğit, SerbülentAim: In this study, we investigated the association between two miRNA variants and the risk of oral squamous cell carcinoma (OSCC), and explored the interaction between clinical factors in the Turkish population. Methods: In this case control study, a total of 142 subjects were genotyped by polymerase chain reaction-restriction fragment length polymorphism to analyze miR-146aG/C (rs2910164) and miR-149C/T (rs2292832) variants. Associations between OSCC risk and clinicopathological characteristics were analyzed by chi-square test Results: There was a significant difference in genotype and allele frequencies of miR-146aG/C variant between patients and control individuals. miR-146aG/C CC genotype and C allele were higher in the patient group compared to the control group (p=0.000, p=0.0001, respectively). Significant differences were also observed when the patients and the controls were compared according to CC vs GG+GC (p=0.0002) and GG vs GC+CC (p=0.002). In combined analysis, CC-CT combined genotype increased in patient group compared to controls (p=0.002), while GC-CT combined genotype increased in controls compared to patients (p=0.028), Conclusion: Our study provides evidence that miR-146aG/C variant may play an important role in susceptibility to OSCC in the Turkish population.Öğe Il-1? and IL-1Ra variant profiles in Turkish patients with diabetic peripheral neuropathy(Bentham Science Publishers B.V., 2019) Nursal, Ayşe Feyda; İnanır, Ahmet; Rüstemoğlu, Aydın; Uzun, Süheyla; Şahin, Kübra; Yiğit, SerbülentBackground: Diabetic peripheral neuropathy (DPN) is one of the most common complications of Type 2 diabetes mellitus (T2DM). This study was conducted to investigate the possible association between interleukin-1? (IL-1?) rs16944 /IL-1 receptor antagonist (IL-1Ra) VNTR variants and genetic susceptibility to DPN in a Turkish cohort Methods: A total of 200 subjects were enrolled in this study, 98 patients with DPN and 102 cases of age and sex-matched healthy controls. Genotyping was performed for all individuals using PCR-RFLP analysis Results: IL-1? rs16944 CC genotype had a 3.20-fold increased risk for DPN (p=0.0003, OR=3.20, 95% Cl:1.72-5.96). IL-1? rs16944 CT genotype was higher in healthy control than patients (p=0.004). IL-1? rs16944 C allele was higher in the patient group compared to controls while T allele was lower in patients than controls (p=0.003). IL-1Ra VNTR a1/a1 and a2/a2 genotypes were lower in DPN patients while a1/a2 genotype was higher in patients (p=0.045). The patients carrying a1/T haplotype had decreased risk of DPN than control groups (p=0.004). The patients carrying a2/a2 genotype had lower HDL level (p=0.039). The subjects carrying a2/a2 genotype had higher total cholesterol level while the subjects carrying a1/a2 genotype had lower total cholesterol (p=0.026 and p=0.037, respectively). IL-1Ra a1 allele was associated with higher HDL level (p=0.041) Conclusion: Findings of this study indicated that the IL-1? rs16944 and IL-1Ra VNTR variants are probably to be associated with susceptibility DPN risk in a Turkish cohort.Öğe Impact of glucocorticoid receptor gene Bcl-1 variant on temporomandibular disorders(Scientific Publishers of India, 2017) Tümer, Mehmet Kemal; Yerliyurt, Kaan; Nursal, Ayşe Feyda; Karakuş, Nevin; Tekcan, Akın; Yiğit, SerbülentObjectives: Temporomandibular Disorders (TMD) constitute a heterogeneous group of disorders characterized by alterations in mandibular movement. The aim of this study was to investigate the association between the Bcl1 variant of NR3C1 gene and TMD susceptibility in Turkish population. Method: NR3C1 gene BcI1 variant of 100 TMD patients and 105 healthy controls was genotyped by polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). Results: There was also no significant difference in regard to genotype and allele frequencies between the patients and the controls (OR 0.216 (95% Cl: 0.85-2.04); p=0.216). However, present study found that numeric pain rating scale was higher in patients with CC and CG genotypes. Discussion: Although the NR3C1 Bcl1 variant did not show any difference between the TMD and the control groups, we thought that this variant could be correlated with pain intensity in patients. Further studies with different ethnic subjects are needed to confirm the results. © 2017, Scientific Publishers of India, All rights reserved.Öğe Impact of the Functional VNTR Variants of the Interleukin-1 Receptor Antagonist and Interleukin-4 Genes on Oral Squamous Cell Carcinoma(2019) Gümüşay, Özge; Nursal, Ayşe Feyda; Yiğit, Serbülent; Tekcan, AkınIntroduction: It has been shown that the host immune response and chronic inflammation could play a role as important risk factors for cancer. Oral squamous cell carcinoma (OSCC) is a common cancer worldwide. In this study, we aimed to evaluate the impact of interleukin-1 receptor antagonist (IL-1RA) and IL-4 variable number tandem repeat (VNTR) polymorphisms on OSCC susceptibility in a Turkish population. Methods: Study subjects comprised of 36 OSCC patients and 100 healthy controls. Genotyping of the IL-1RA VNTR (rs2234663) and IL-4 VNTR (rs79071878) polymorphisms were analyzed by polymerase chain reaction. Results: The frequency of IL-1RA VNTR 1/2+2/2 genotypes increased in the patients than healthy controls while IL-1RA VNTR 1/1 genotype was higher in the control group than in the patients (p=0.002). The subjects carrying IL-1RA VNTR 1/2+2/2 genotypes showed a 12.011-fold increased risk of susceptibility to OSCC. IL-1RA VNTR allele 1 was higher in the control group than the patient group while IL-1RA VNTR allele 2 was higher in the patient group than the control group (respectively, p=0.000, p=0.000). The subjects carrying IL-1RA VNTR allele 2 showed a 2.609-fold increased risk of susceptibility to OSCC. The IL-4 VNTR P1/P1 and P1/P2 genotype frequencies were higher in the patient group compared to the control group (p=0.039). IL-4 VNTR P1 allele was higher in the patients compared to the controls (p=0.030). Conclusion: The significant association between the functional VNTR polymorphisms of IL-1RA/IL-4 genes and OSCC suspectibility in a Turkish population confirmed a role of altered inflammatory process in OSCC pathogenesis.Öğe Investigation of the role of interleukin-1 receptor antagonist VNTR variant on the Behçet’s disease(2018) Dursun, Gul; Nursal, Ayşe Feyda; Demir, Helin Deniz; Karakuş, Nevin; Demir, Osman; Yiğit, SerbülentObjective: Behçet’s disease (BD), a chronic multisystem inflammatory disorder, is mainly characterized by relapsing periods of a wide range of clinical symptoms. Several cytokine genes may play important roles in the pathogenesis of BD. Therefore, interleukin-1 receptor antagonist (IL-1Ra) gene 86bp variable number tandem repeat (VNTR) variant was investigated in patients with BD in a Turkish population. Methods: One hundred nine patients (60 females, 49 males; the mean age±standard deviation [SD] was 36.56±9.571 years) with BD and one hundred healthy individuals (54 females, 46 males; the mean age±SD was 36.64±2.294 years) were examined in the study. For genotyping, polymerase chain re- action-restriction fragment length polymorphism analysis was employed. Data were analyzed using Statistical Package for Social Sciences (SPSS) 22.0 (IBM Corp.; Armonk, NY, USA) (p<0.05) Results: The genotype distribution and allele frequencies of the IL-1Ra VNTR variant did not differ significantly between the patients and the controls (p>0.05). The frequency of the a1/a1, a1/a2 geno- types and a1, a2 alleles were the most common both in patients and healthy controls (p=0.37, p=0.26, and p=0.53, respectively). Also, no statistically significant difference was found between the IL-1Ra VNTR variant genotypes and clinical characteristics (p>0.05). Conclusion: The results of this study do not support an association between the IL-1Ra VNTR variant and the risk of BD in a Turkish population. However, further studies of this variant with larger sample sizes and different ethnicities are required for confirmation.Öğe Macrophage migration inhibitory factor -173GC variant might increase the risk of behçet's disease(S. Karger AG, 2018) Nursal, Ayşe Feyda; Yiğit, Serbülent; Tural, Ercan; Kalkan, Göknur; Tümer, Mehmet Kemal; Tekcan, AkınObjective: The aim of the present study was to investigate any possible association between the macrophage migration inhibitory factor (MIF) -173GC variant and Behçet's disease (BD) in a group of Turkish patients. Subjects and Methods: A total of 111 patients with BD and 100 healthy controls were enrolled in this study. Genomic DNA was extracted from peripheral lymphocytes. The MIF -173GC variant was genotyped using polymerase chain reaction restriction fragment length polymorphism. The allele and genotype frequencies of patients and controls were compared using the ?2 test. Results: A statistically significant difference in the distribution of the genotype was observed between BD patients and healthy controls. The homo-genotype CC was more prevalent in the patient group compared to the control group (p = 0.008, OR: 0.24, 95% Cl: 0.05-0.78). A significant association was observed when the patients were compared with the controls according to GG + GC versus CC ge-notypes (p = 0.003, OR: 1.21, 95% CI: 0.06-0.063). Allele frequencies of the MIF -173GC variant did not show any statistically significant difference between patients and controls. Conclusion: In this study, we conclude that the CC ge-notype of the MIF -173GC variant may be a risk factor in the pathogenesis of BD in the Turkish population. However, further studies with larger samples are needed to address the exact role of this variant in BD. © 2018 The Author(s) Published by S. Karger AG, Basel.Öğe Significance of IL-1Ra and IL-6 gene variants in Turkish patients with Crimean-Congo hemorrhagic fever(Wolters Kluwer Medknow Publications, 2019) Say Coşkun, Umut Safiye; Nursal, Ayşe Feyda; Güneş, Ferda; Rüstemoğlu, Aydın; Yaylı, Abdullah; Karakuş, Nevin; Barut, Hüseyin Şener; Yiğit, SerbülentObjective: To investigate the association between IL-1Ra variable number of tandem repeat (rs2234663), IL-6 -597GA (rs1800797), IL-6 -572GC (rs1800796) and the risk of Crimean-Congo hemorrhagic fever (CCHF) in the Turkish patients. Methods: This study included 50 patients infected with CCHF and 50 healthy controls. These variants were genotyped using polymerase chain reaction and/or restriction fragment length polymorphism method. Results: The distribution of the IL-6 -572GC genotypes and alleles varied significantly between the patients and the controls. The subjects carrying IL-6 -572GC GG genotype and G allele had increased risk of developing CCHF compared to the control group (P=0.006, P=0.014, respectively). IL-6 -572GC GC genotype was higher in the controls than the patients (P=0.006). For the triple genotype combinations, the 1/2-GC-GG genotype combination was detected more frequently in the control group than CCHF patients (P=0.016). IL-6 (-572/-597) GG-GG genotype was significantly higher in the patient group (P=0.015), while the GC-GG genotype was significantly lower in the patient group (P=0.005). Additionally, the G-G haplotype was significantly higher in the patient group (P=0.042), whereas C-G was found to be significantly lower in the patients than the control group (P=0.037). Conclusions: The results of this study suggest the IL-6 -572GC variant might be genetic markers of sensitivity to CCHF in the Turkish population and may facilitate greater protection against the disease. © 2019 Asian Pacific Journal of Tropical Biomedicine Produced by Wolters Kluwer-Medknow.Öğe The IL-1Ra gene variable number tandem repeat variant is associated with susceptibility to temporomandibular disorders in Turkish population(John Wiley and Sons Inc., 2018) Tümer, Mehmet Kemal; Nursal, Ayşe Feyda; Tekcan, Akın; Yerliyurt, Kaan; Geyko, Anastasia; Yiğit, SerbülentBackground: Temporomandibular joint disorders (TMD) are a group of disorders involving temporomandibular joint and related structures. Interleukine-1 receptor antagonist (IL-1Ra) is an important anti-inflammatory molecule that competes with other interleukin-1 molecules. This study was designed to investigate the possible association of the IL-1Ra VNTR variant with the risk of TMD in the Turkish population. Methods: Peripheral blood samples were collected from 100 patients with TMD (23 males, 77 females) and 110 healthy individuals (35 males, 75 females). Genotyping of IL-1Ra 86 bp VNTR variant was evaluated by gel electrophoresis after polymerase chain reaction (PCR). Results: Our results show that there is a statistically significant difference between TMD patients and control group with respect to IL-1Ra genotype distribution and allele frequencies. 1.2, 1.4, and 4.4 genotypes were more common in patients, while 2.2 and 3.3 genotypes were rarer (P<.000). Frequency of alleles 1 and 4 was higher in patient groups (P<.000), whereas alleles 2 and 3 had a lower frequency in patients with TMD (P<.000). Conclusions: This is the first correlation study that evaluates the association between IL-1Ra gene VNTR variant and TMD. The VNTR variant related to IL-1Ra gene showed a strong pattern of association with TMD that may have a potential impact on disease counseling and management. Larger studies with various ethnicities are needed to establish the impact of IL-1Ra VNTR variant on risk of developing TMD. © 2017 Wiley Periodicals, Inc.Öğe The Role of Interleukin-4 VNTR Polymorphism in Dysmenorrhea Development(2020) Esen, Mehmet; Nursal, Ayşe Feyda; Duman, Esra; Yiğit, SerbülentAim: Primary dysmenorrhea (PD) is among the most common gynecological diseases in young women presenting to emergency department. It has been shown that cytokines played roles in PD pathogenesis. Interleukin-4 (IL-4), a cytokine, regulates multiple biological functions. The objective of the present study was to examine possible relationship between IL-4 variable number of tandem repeat (VNTR) polymorphism and susceptibility to PD. Methods: This study was based on a prospective cohort study design. A total of 120 patients with PD and 116 healthy controls, who presented to the emergency department between 01.12.2018 and 01.12.2019, were included in the study. IL-4 VNTR was genotyped by polymerase chain reaction (PCR). The results of the analyses were evaluated in terms of statistically significant differences. Results: The prevalence of genotypes of P1/P1, P1/P2, and P2/ P2 for IL-4 VNTR were 1.72%, 34.4%, and 63.7% in patients with PD, and 0.8%, 26.6%, and 72.5% in controls, respectively. There was no significant difference in distribution of genotypes and allele frequencies of IL-4 VNTR between the groups (p>0.05). Conclusion: This research is the first study to examine the relationship between IL-4 VNTR and PD. The data of the present study did not support a relationship between IL-4 VNTR and PD risk.
